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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 16-288174-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=288174&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 288174,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_003502.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "c.2537T>C",
"hgvs_p": "p.Val846Ala",
"transcript": "NM_003502.4",
"protein_id": "NP_003493.1",
"transcript_support_level": null,
"aa_start": 846,
"aa_end": null,
"aa_length": 862,
"cds_start": 2537,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262320.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003502.4"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "c.2537T>C",
"hgvs_p": "p.Val846Ala",
"transcript": "ENST00000262320.8",
"protein_id": "ENSP00000262320.3",
"transcript_support_level": 1,
"aa_start": 846,
"aa_end": null,
"aa_length": 862,
"cds_start": 2537,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003502.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262320.8"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "c.2429T>C",
"hgvs_p": "p.Val810Ala",
"transcript": "ENST00000354866.7",
"protein_id": "ENSP00000346935.3",
"transcript_support_level": 1,
"aa_start": 810,
"aa_end": null,
"aa_length": 826,
"cds_start": 2429,
"cds_end": null,
"cds_length": 2481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354866.7"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "c.2552T>C",
"hgvs_p": "p.Val851Ala",
"transcript": "ENST00000957925.1",
"protein_id": "ENSP00000627984.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 867,
"cds_start": 2552,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957925.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "c.2534T>C",
"hgvs_p": "p.Val845Ala",
"transcript": "ENST00000911683.1",
"protein_id": "ENSP00000581742.1",
"transcript_support_level": null,
"aa_start": 845,
"aa_end": null,
"aa_length": 861,
"cds_start": 2534,
"cds_end": null,
"cds_length": 2586,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911683.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "c.2444T>C",
"hgvs_p": "p.Val815Ala",
"transcript": "ENST00000911684.1",
"protein_id": "ENSP00000581743.1",
"transcript_support_level": null,
"aa_start": 815,
"aa_end": null,
"aa_length": 831,
"cds_start": 2444,
"cds_end": null,
"cds_length": 2496,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911684.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "c.2429T>C",
"hgvs_p": "p.Val810Ala",
"transcript": "NM_181050.3",
"protein_id": "NP_851393.1",
"transcript_support_level": null,
"aa_start": 810,
"aa_end": null,
"aa_length": 826,
"cds_start": 2429,
"cds_end": null,
"cds_length": 2481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181050.3"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "c.2423T>C",
"hgvs_p": "p.Val808Ala",
"transcript": "ENST00000911685.1",
"protein_id": "ENSP00000581744.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 824,
"cds_start": 2423,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911685.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "c.2399T>C",
"hgvs_p": "p.Val800Ala",
"transcript": "ENST00000957926.1",
"protein_id": "ENSP00000627985.1",
"transcript_support_level": null,
"aa_start": 800,
"aa_end": null,
"aa_length": 816,
"cds_start": 2399,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957926.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "c.2288T>C",
"hgvs_p": "p.Val763Ala",
"transcript": "ENST00000957927.1",
"protein_id": "ENSP00000627986.1",
"transcript_support_level": null,
"aa_start": 763,
"aa_end": null,
"aa_length": 779,
"cds_start": 2288,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957927.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "c.2258T>C",
"hgvs_p": "p.Val753Ala",
"transcript": "ENST00000911686.1",
"protein_id": "ENSP00000581745.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 769,
"cds_start": 2258,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911686.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "c.2699T>C",
"hgvs_p": "p.Val900Ala",
"transcript": "XM_011522682.3",
"protein_id": "XP_011520984.1",
"transcript_support_level": null,
"aa_start": 900,
"aa_end": null,
"aa_length": 916,
"cds_start": 2699,
"cds_end": null,
"cds_length": 2751,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522682.3"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "c.2591T>C",
"hgvs_p": "p.Val864Ala",
"transcript": "XM_011522683.3",
"protein_id": "XP_011520985.1",
"transcript_support_level": null,
"aa_start": 864,
"aa_end": null,
"aa_length": 880,
"cds_start": 2591,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522683.3"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "c.1697T>C",
"hgvs_p": "p.Val566Ala",
"transcript": "XM_017023745.3",
"protein_id": "XP_016879234.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 582,
"cds_start": 1697,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023745.3"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "c.1694T>C",
"hgvs_p": "p.Val565Ala",
"transcript": "XM_011522686.1",
"protein_id": "XP_011520988.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 581,
"cds_start": 1694,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522686.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "c.1679T>C",
"hgvs_p": "p.Val560Ala",
"transcript": "XM_047434731.1",
"protein_id": "XP_047290687.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 576,
"cds_start": 1679,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434731.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "c.1571T>C",
"hgvs_p": "p.Val524Ala",
"transcript": "XM_047434732.1",
"protein_id": "XP_047290688.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 540,
"cds_start": 1571,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434732.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "c.1487T>C",
"hgvs_p": "p.Val496Ala",
"transcript": "XM_017023746.2",
"protein_id": "XP_016879235.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 512,
"cds_start": 1487,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023746.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "n.5606T>C",
"hgvs_p": null,
"transcript": "ENST00000461023.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000461023.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "n.2768T>C",
"hgvs_p": null,
"transcript": "NR_134879.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_134879.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "c.*42T>C",
"hgvs_p": null,
"transcript": "ENST00000457798.1",
"protein_id": "ENSP00000416835.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 101,
"cds_start": null,
"cds_end": null,
"cds_length": 306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457798.1"
}
],
"gene_symbol": "AXIN1",
"gene_hgnc_id": 903,
"dbsnp": "rs2141459394",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2791779637336731,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.061,
"revel_prediction": "Benign",
"alphamissense_score": 0.1344,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.597,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003502.4",
"gene_symbol": "AXIN1",
"hgnc_id": 903,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2537T>C",
"hgvs_p": "p.Val846Ala"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}